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Bartter disease type 3

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.
Uniprot Description A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria.
Mondo Term and Equivalent IDs
MONDO:0011822:  Bartter disease type 3
GARD:0009659: 
Orphanet:93605: 
SCTID:700111000: 
UMLS:C1846343: